Identification of gene expression-based prognostic markers in the hematopoietic stem cells of patients with myelodysplastic syndromes.

Purpose: The diagnosis of patients with myelodysplastic syndromes (MDS) is largely dependent on morphologic examination of bone marrow aspirates. Several criteria that form the basis of the classifications and scoring systems most commonly used in clinical practice are affected by operator-dependent variation. To identify standardized molecular markers that would allow prediction of prognosis, we have used gene expression profiling (GEP) data on CD34+ cells from patients with MDS to determine the relationship between gene expression levels and prognosis.

Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.

Acute myeloid leukemia patients with normal cytogenetics (CN-AML) account for almost half of AML cases. We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2, RUNX1, DNMT3A, NRAS, JAK2, WT1, CBL, SF3B1, TP53, KRAS and MPL) in a series of 84 CN-AML cases. The most frequently mutated genes in primary cases were NPM1 (60.

Immune thrombocytopaenia in adults: a single-centre retrospective review of patients presenting over 7 years.

Aim: To compare the investigation and management of adult immune thrombocytopaenia in our institution with international guidelines.

Method: Adults presenting with immune thrombocytopaenia over a 7-year period were identified from a database. Written and electronic case records were reviewed.

Successful treatment of transplant-associated microangiopathy with rituximab.

The microangiopathic anaemia with thrombocytopenia--which can occur after haematopoietic stem cell transplant--resembles thrombotic thrombocytopenic purpura but has different pathophysiology and does not respond to plasma exchange. We describe a patient with severe manifestations of this disorder who recovered promptly following treatment with rituximab, an anti-CD20 antibody.